Ashley and Cole Carper traveled from Little Rock, AR, to tell their family’s story at the FDA hearing.

Spark Therapeutics has taken a major step closer to gaining marketing approval for its vision-restoring gene therapy for people with RPE65 mutations causing Leber congenital amaurosis (LCA) and retinitis pigmentosa. At the conclusion of a public hearing on October 12, 2017, an advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval. The FDA is due to make a final decision on marketing approval for the treatment, known as voretigene neparvovec, by January 12, 2018.

The event held at FDA headquarters included the presentation of trial results from Spark representatives, as well as compelling testimony from patients, family members, and industry stakeholders.

Twenty-four-year-old Katelyn Corey told hearing attendees that before receiving the treatment, her constant adaptation to dwindling vision didn’t leave time for much else in her life. But her circumstances changed dramatically in December 2013, after she received the RPE65 gene therapy in Spark’s Phase III clinical trial.
“Within days, I could see vibrant colors. I could even see the Philadelphia City Hall clock tower at night,” she said. “Also, I can go to a restaurant and see everything by candlelight, and I can see stars in the night sky.” Katelyn recently earned a master’s degree in epidemiology and works as a research analyst for the U.S. Department of Veterans Affairs.

Eleven-year-old Cole Carper, the youngest speaker at the hearing, said he loves playing with Legos now that he has better vision thanks to the gene therapy. His 13-year-old sister, Caroline, who was also in Spark’s Phase III study, enjoys reading print books instead of Braille. She’s also preparing for a role in the play “Shrek”- something her mom, Ashley, said would have been very difficult before treatment.

Cole and his mom were headed down to the National Mall in Washington, D.C., after the meeting to take in the sites. Cole was especially looking forward to checking out the Spy Museum.

The Foundation’s own chief research officer, Dr. Stephen Rose, also gave testimony at the hearing. “The approval of this gene therapy will be life-changing for people with severe vision loss due to RPE65 mutations,” he said. “FDA approval of this groundbreaking treatment would provide strong momentum for the advancement of several other vision-saving gene therapies under development in labs and clinics around the world.”

If approved, voretigene neparvovec has the potential to be the first FDA-approved gene therapy for the eye and for any inherited disease. The investigational treatment, the result of more than two decades of research and development, delivers functional copies of the RPE65 gene directly into the retina thereby compensating for nonfunctional, mutated copies. FFB was an early financial supporter of that work, investing $10 million for RPE65 lab and clinical research.

“FFB applauds the investigative teams at the University of Pennsylvania, University of Florida, Children’s Hospital of Philadelphia, and Spark Therapeutics for bringing the therapy into and through clinical trials that have demonstrated safety and strong efficacy,” added Dr. Rose

Hi Lesley, has your son been genetically tested? If not, that’s a good start to know if he’s qualified for gene therapy. If he is interested in participating in FFB’s free genetic testing study, you need to first register on the Foundation’s free and secure patient registry at http://www.myretinatracker.org. After you have registered, members can send an email to coordinator@myretintracker.org indicating your interest in genetic testing. Hope this helps!

This is absolutely amazing. This is the answer to many prayers for a cure for hereditary blindness. Four generations of my family has suffered with Retinitis Pigmentosa. I have 3 siblings that are almost completely blind. I believe this is the beginning of a cure for all hereditary blindness. God bless you!!!

Please help my nephew who is 24 yrs old. He has retinoschiosis and such a wonderful person. He seeks his own life and one of the most profoundly curious and witty person I know. The gentleman lives between his aunts house and desires to work, travel, learn everything he can. He is so deserving and has such a potential.
His name is Daniel Doggett.

My husband, Bob, would definitely be interested in this treatment since he (and his mother and one daughter) has Retinitis Pigmentosa. Please keep us informed as to when this treatment would be available. We are in the Houston area.

Has anyone been genetically tested? That is an important first step toward getting into a clinical trial. You can reach out to http://www.idyourird.com and see if you qualify for their no-cost genetic testing. The above trial is only for people with mutations in RPE65.

My father was diagnosed with retinitis pigmentosa at around the age of 18 yrs. He is now 68 yrs and would love to see his grandchildren and now great grandchildren. If you have any information on how he might be able to be in one of your trials or just more information on the gene therapy that would be very much appreciated. Thank you for your time. My fathers name is Richard Wirebaugh.

This is ground breaking stuff; hope to millions of people out there who have congenital eye defects, and have limited pharmacologic treatment options. It is heartwarming to read about Katelyn and Cole. Hoping to hear and experience more of these success stories, after the PDUFA date of Jan 12, 2018. Keeping fingers crossed.

This is wonderful news diagnosed 2 years ago with RP been praying every day.GOD is good all the time all the time GOD is good.Thanks for all the time and research that was done.To all the people involved God bless.

Yes, FFB funds research for several forms of macular degeneration including age-related macular degeneration and Stargardt disease. If you let us know more specifically what you are diagnosed with, we can provide additional details.

Oh My Gosh! I have been waiting for something for 43 years now for my son. I’ve always told him before i die, he will see his kids. I am going to make him an appointment to see if he has the mutation and enough cells, as i understand that is a criteria. He was diagnosed at 9 months with Lebers Amourosis. I am so excited at the prospect of him being able to see. I need to know more about the cost please. And..Thank You!!

This therapy has been approved. But keep in mind it is only for people with mutations in the gene RPE65. You need to know if that is the mutated gene affecting your son. Here is more information about LUXTURNA: https://luxturna.com/.

My husband is 62 and was diagnosed with
RP in 1998. We are very excited about this
new drug and hope that he might be a candidate
For this treatment and would be very
interested in participating in one of your clinical
trials,

hello to all
my self ankit i am from india
my age is 27 and i am suffering from genetic RP
i am partial bling .but loosing my vission fastly
my sister also suffering same
if any one can help
us this is my contact info
919028713008
facebook id ankagr19@gmail.com
[please do join me we all have to be in touch fo this treatmnet
thank u

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